Variant report
Variant | esv3414671 |
---|---|
Chromosome Location | chr6:88101553-88101795 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:9)
- LncRNA region (count:2)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr6:88101491..88103875-chr6:88115341..88119071,3 | MCF-7 | breast: | |
2 | chr6:88096108..88099056-chr6:88101308..88104420,3 | K562 | blood: | |
3 | chr6:88100843..88102348-chr6:88105959..88108612,2 | MCF-7 | breast: | |
4 | chr6:87775895..87776395-chr6:88100962..88101615,2 | MCF-7 | breast: | |
5 | chr6:88093882..88098127-chr6:88101103..88103625,3 | MCF-7 | breast: | |
6 | chr6:87986417..87988230-chr6:88100349..88101834,13 | MCF-7 | breast: | |
7 | chr6:87775917..87776730-chr6:88101118..88102031,3 | K562 | blood: | |
8 | chr6:88099705..88102582-chr6:88105005..88107377,3 | K562 | blood: | |
9 | chr6:87986550..87987553-chr6:88100764..88101655,3 | MCF-7 | breast: |
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No. | lncRNA name | Chromosome Location | lncRNA alias |
---|---|---|---|
1 | lnc-C6orf164-1 | chr6:88101498-88101593 | ENSG00000226524 |
2 | lnc-C6orf164-1 | chr6:88101498-88101595 | NONHSAT113899 |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000213204 | chromatin interactions |
ENSG00000203871 | chromatin interactions |
ENSG00000272514 | chromatin interactions |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs4707369 | chr6:88101602-88101603 | Weak transcription | Chromatin interactive region | 3 gene(s) | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
2 | rs547093934 | chr6:88101614-88101615 | Weak transcription | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
3 | rs374334930 | chr6:88101636-88101637 | Weak transcription | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
4 | rs529942496 | chr6:88101641-88101642 | Weak transcription | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
5 | rs535335818 | chr6:88101667-88101668 | Weak transcription | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
6 | rs193050508 | chr6:88101672-88101673 | Weak transcription | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
7 | rs113895848 | chr6:88101696-88101697 | Weak transcription | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
8 | rs569804151 | chr6:88101703-88101704 | Weak transcription | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
9 | rs551505521 | chr6:88101741-88101742 | Weak transcription | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
10 | rs558850480 | chr6:88101747-88101748 | Weak transcription | Chromatin interactive region | 3 gene(s) | Overlapped CNVs | n/a |
11 | rs13192579 | chr6:88101748-88101749 | Weak transcription | Chromatin interactive region | 3 gene(s) | LD-proxies of rSNPOverlapped rCNV | n/a |
Disease | PMID | Source |
---|---|---|
Uveal melanoma | 21693616 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Biliary cancer | 19435499 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Malaria | 21533027 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Ewing''s sarcoma | 17952124 | CNVD |
Autism | 21448237 | CNVD |
Breast cancer | 20668451 | CNVD |
Cancer | 20668451 | CNVD |
Lung cancer | 20668451 | CNVD |
Ovarian cancer | 20668451 | CNVD |
Pancreas cancer | 20668451 | CNVD |
Prostate cancer | 20668451 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Autism | 22495311 | CNVD |
Gastric cancer | 17908304 | CNVD |
Biliary cancer | 20360734 | CNVD |
Breast cancer | 20360734 | CNVD |
Coronary artery disease | 20360734 | CNVD |
Crohn''s disease | 20360734 | CNVD |
Hypertension | 20360734 | CNVD |
Rheumatoid arthritis | 20360734 | CNVD |
Type 1 diabetes | 20360734 | CNVD |
Type 2 diabetes | 20360734 | CNVD |
Acute lymphoblastic leukemia | 22237106 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Systemic lupus erythematosus | 17503323 | CNVD |
Melanoma | 18172304 | CNVD |
Cancer | 21637783 | CNVD |
Colorectal cancer | 16272173 | CNVD |
Acute lymphoblastic leukemia | 17443227 | CNVD |
T-cell lymphomas | 19863542 | CNVD |
lymphocytic leukemia | 21291569 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Follicular lymphoma | 19010834 | CNVD |
Non-small cell lung cancer | 21044232 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Phyllodes tumor | 17334353 | CNVD |
Breast cancer | 16608533 | CNVD |
Non-small cell lung cancer | 21385341 | CNVD |
Prostate cancer | 16705090 | CNVD |
Adenoid cystic carcinoma | 17372589 | CNVD |
Ependymoma | 16718352 | CNVD |
High-proliferative meningiomas | 17937814 | CNVD |
Intracranial tumor | 16823260 | CNVD |
Monoclonal gammopathy of undetermined significance | 17077331 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Prostate cancer | 16573809 | CNVD |
Breast cancer | 16272173 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Prostate cancer | 18632612 | CNVD |
Hodgkin''s lymphoma | 18641027 | CNVD |
Diffuse large b-cell lymphoma | 18287131 | CNVD |
Urothelial carcinoma | 18382360 | CNVD |
Ovarian neoplasms | 16753589 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Wilms tumour | 21544195 | CNVD |
Follicular lymphoma | 17699855 | CNVD |
Breast cancer | 17133270 | CNVD |
Leukemia | 18688285 | CNVD |
Prostate cancer | 19242612 | CNVD |
Glioma | 21046410 | CNVD |
Primary central nervous system lymphoma | 21088137 | CNVD |
Zellweger syndrome | 21572526 | CNVD |
Follicular lymphoma | 20505157 | CNVD |
Congenital diaphragmatic hernia | 21085971 | CNVD |
Malignant melanoma | 18718029 | CNVD |
Lung adenocarcinoma | 21935476 | CNVD |
Mental retardation | 21045960 | CNVD |
Obesity | 21045960 | CNVD |
learning difficulties | 21045960 | CNVD |
Prostate cancer | 17245344 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Invasive pancreatic ductal carcinoma | 16982739 | CNVD |
Acute lymphoblastic leukemia | 17690704 | CNVD |
Cancer | 20164920 | CNVD |
Burkitt''s lymphoma | 20823134 | CNVD |
Lung cancer | 18438408 | CNVD |
Breast cancer | 21858162 | CNVD |
Acute lymphoblastic leukemia | 18458336 | CNVD |
Acute lymphoblastic leukemia | 17640729 | CNVD |
Chronic lymphocytic leukemia | 21546498 | CNVD |
low-grade B-cell lymphoma tumor | 18367492 | CNVD |
Breast cancer | 17603634 | CNVD |
Chondromyxoid Fibroma | 20696777 | CNVD |
Cancer | 21183584 | CNVD |
abnormal development | 18461090 | CNVD |
Myelodysplastic syndrome | 18508791 | CNVD |
Acute lymphoblastic leukemia | 21098271 | CNVD |
Breast cancer | 21364760 | CNVD |
Developmental delay | 19490664 | CNVD |
Myelofibrosis | 22110671 | CNVD |
Urothelial cell carcinoma | 18451213 | CNVD |
T-cell acute lymphoblastic leukemia | 19406988 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
Non-muscle invasive bladder neoplasm | 19445696 | CNVD |
Breast cancer | 22522925 | CNVD |
Non-syndromic sensorineural hearing loss | 18451855 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:88040600-88116800 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
2 | chr6:88054800-88110200 | Weak transcription | Primary T cells from cord blood | blood |
3 | chr6:88094800-88103400 | Weak transcription | K562 | blood |